Long-Term Results in Isolated Metopic Synostosis: The Oxford Experience over 22 Years

Natghian, Hamidreza; Song, Marie; Jayamohan, Jayaratnam; Johnson, David; Magdum, Shailendra; Richards, Peter G.; Wall, Steven A.

doi:10.1097/prs.0000000000004768

Cited by 35 publications

(49 citation statements)

References 27 publications

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“…Of those four, one with syndromic SS developed additional bilateral coronal suture fusion and was found to have primary raised ICP and the other three (two SS, one MS) had raised ICP following reconstructive craniofacial surgery, necessitating a second major surgical procedure. Secondarily raised ICP represents an infrequent complication of simple synostosis of midline sutures, for example only 2 of 128 patients with SS, 29 and 6 of 202 patients with MS 30 who underwent major calvarial remodeling procedures developed secondarily raised ICP. The difference from background is significant ( P = 0.042, Fisher’s exact test), suggesting that this is a complication that should be monitored for in SMAD6 -positive CRS.…”

Section: Resultsmentioning

confidence: 99%

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

Calpena

Cuellar

Bala

et al. 2020

Genetics in Medicine

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Purpose Enrichment of heterozygous missense and truncating SMAD6 variants was previously reported in nonsyndromic sagittal and metopic synostosis, and interaction of SMAD6 variants with a common polymorphism nearBMP2 (rs1884302) was proposed to contribute to inconsistent penetrance. We determined the occurrence of SMAD6 variants in all types of craniosynostosis, evaluated the impact of different missense variants on SMAD6 function, and tested independently whether rs1884302 genotype significantly modifies the phenotype. Methods We performed resequencing of SMAD6 in 795 unsolved patients with any type of craniosynostosis and genotyped rs1884302 in SMAD6-positive individuals and relatives. We examined the inhibitory activity and stability of SMAD6 missense variants. Results We found 18 (2.3%) different rare damaging SMAD6 variants, with the highest prevalence in metopic synostosis (5.8%) and an 18.3-fold enrichment of loss-of-function variants comparedwith gnomAD data (P < 10−7). Combined with eight additional variants, ≥20/26 were transmitted from an unaffected parent but rs1884302 genotype did not predict phenotype. Conclusion Pathogenic SMAD6 variants substantially increase the risk of both nonsyndromic and syndromic presentations of craniosynostosis, especially metopic synostosis. Functional analysis is important to evaluate missense variants. Genotyping of rs1884302 is not clinically useful. Mechanisms to explain the remarkable diversity of phenotypes associated with SMAD6 variants remain obscure.

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Section: Resultsmentioning

confidence: 99%

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

Calpena

Cuellar

Bala

et al. 2020

Genetics in Medicine

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“…22 Traditional open treatment for metopic and unicoronal synostosis is fronto-orbital advancement (FOA). 26 Lambdoid synostosis is classically treated by posterior cranial vault remodeling (CVR). 9 These open techniques are commonly and often exclusively practiced in craniofacial centers around the world.…”

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confidence: 99%

Cost comparison of surgical management of nonsagittal synostosis: traditional open versus endoscope-assisted techniques

Zubovic

Lapidus

Skolnick

et al. 2020

Journal of Neurosurgery: Pediatrics

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OBJECTIVEManagement of craniosynostosis at an early age is important for mitigating the risk of abnormal cranial development, but treatment can result in significant expenses. Previous research has shown that endoscope-assisted craniectomy (EAC) is less costly than open cranial vault remodeling (CVR) for patients with sagittal synostosis. The aim of this study was to strengthen the existing body of healthcare cost research by elucidating the charges associated with open and endoscopic treatment for patients with nonsagittal synostosis.METHODSThe authors performed a retrospective analysis of data obtained in 41 patients who underwent open CVR and 38 who underwent EAC with postoperative helmet therapy for nonsagittal, single-suture craniosynostosis (metopic, coronal, and lambdoid) between 2008 and 2018. All patients were < 1 year of age at the time of surgery and had a minimum 1 year of follow-up. Inpatient charges, physician fees, helmet charges, and outpatient clinic visits in the 1st year were analyzed.RESULTSThe mean ages of the children treated with EAC and open CVR were 3.5 months and 8.7 months, respectively. Patients undergoing EAC with postoperative helmet therapy required more outpatient clinic visits in the 1st year than patients undergoing CVR (4 vs 2; p < 0.001). Overall, 13% of patients in the EAC group required 1 helmet, 30% required 2 helmets, 40% required 3 helmets, and 13% required 4 or more helmets; the mean total helmeting charges were $10,072. The total charges of treatment, including inpatient charges, physician fees, outpatient clinic visit costs, and helmet charges, were significantly lower for the EAC group than they were for the open CVR group ($50,840 vs $95,588; p < 0.001).CONCLUSIONSDespite the additional charges for postoperative helmet therapy and the more frequent outpatient visits, EAC is significantly less expensive than open CVR for patients with metopic, coronal, and lambdoid craniosynostosis. In conjunction with the existing literature on clinical outcomes and perioperative resource utilization, these data support EAC as a cost-minimizing treatment for eligible patients with nonsagittal synostosis.

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“…Fronto-orbital J o u r n a l P r e -p r o o f advancement is performed, with parietal craniectomies and pterional resection to optimize cranial expansion and allow future cranial growth [38]. Other authors tailored a neoforehead to match the remodeled supraorbital bar, then stabilized it by wires and internal bone graft [39]: the advantages of wires are their significantly lower cost compared to absorbable plates, and their malleability. However, they can loosen over time and may become palpable through the skin, requiring subsequent removal in 8.4% of cases.…”

Section: New Techniquesmentioning

confidence: 99%

“…years [39]. For patients with long-term persistent sequelae of trigonocephaly and anterior plagiocephaly surgery, Queiros et al [44] used cutting guides to facilitate scheduled complex reconstruction with autologous bone; in their series, sequelae were due to a frontal ossification defect on the midline at the suturectomy level, with visualization and palpation of the brain beats.…”

Section: Secondary Correctionsmentioning

confidence: 99%

Recent advances in trigonocephaly

2019

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Introduction. The aim of this review was to report on recent advances in trigonocephaly since the last report on craniosynostosis published in 2006. Material and methods. The review was conducted in accordance with the PRISMA guidelines. Research focused on four main topics: epidemiology, neurodevelopmental disorders, genetics and surgical techniques. Results. Forty reports were included. The prevalence of trigonocephaly increased during the last two decades both in Europe and in the United States, but no clear contributing factors have yet been identified. Neurodevelopmental disorders are frequent in syndromic trigonocephaly and not particularly rare in non-syndromic cases (up to 34%). Developmental retardation (speech, motor or global) was almost always present in children exposed to valproic acid. Chromosomal abnormalities described in metopic synostosis comprised deletion of chromosome 11q24, deletion or trisomy of 9p and deletion of 7p, deletions of 3q, 13q, 12pter, 22q11, and duplication of 15q25. SMAD6 mutations should be systematically screened for in familial cases. Recent advances in surgical techniques have mainly concerned endoscopic-assisted procedures, as they significantly reduce perioperative morbidity. Conclusions. Neurosurgeons, maxillofacial and plastic surgeons will be increasingly concerned with trigonocephaly because of the increase in prevalence observed over the last two decades. Cytogenetic alterations are probably underestimated in this craniosynostosis, considering the high rate of neurodevelopmental retardation compared to other single-suture synostoses. Genetic counseling is therefore more and more effective in this pathology. An objective method to evaluate the cosmetic results of both endoscopic and open surgeries is necessary, as some under-corrections have been reported with minimally invasive surgery.

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Long-Term Results in Isolated Metopic Synostosis: The Oxford Experience over 22 Years

Abstract: Therapeutic, IV.

Cited by 35 publications

References 27 publications

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

Cost comparison of surgical management of nonsagittal synostosis: traditional open versus endoscope-assisted techniques

Recent advances in trigonocephaly

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